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Preliminary Program (up
Preliminary Program (up-dated April 10 ) th General scheme 1) Researchers and CliniciansTrack,with ECM for M Doctors, Biologists and Geneticians 2) Therapists, Educators and Teachers Track,with different ECM for Therapists and Educators Spaces for Exhibitions Individual consultations for families about specific problems Families are admitted at all the sessions 1 – Researchers and CliniciansTrack Friday, October 30th Opening Lecture Update on European policy on Rare Diseases– DomenicaTaruscio, ISS Rome, Italy Basic Research 1 Disruption of DNA methylation dependent long gene repression in Rett syndrome; Studying in vitro and in vivo MeCP2 Y120 phosphorylation: novel insights on a multifunctional protein Speakers by abstracts Discussion Basic Research2 Crisp Cas systems for MECP2 Glialcells, MECP2 and RettSyndrome Speakers by abstracts Discussion Lecture From the Neuroscience research to the treatment - Silvio Garattini, I M Negri, Milan, Italy Focus on Epilepsy Epilepsy in Rett Syndrome Epileptic and non-epileptic paroxysmal disorders Alternative treatments (ketogenic diet, VNS, etc.) Discussion Evolution and treatment with aging The evolution today: contribution of genetics and epidemiology From childhood to adulthood: protocols for clinical management Discussion Genetics Exome sequencing on a cohort of Rett patients Improving genetic diagnosis using NGS: comparing panell-exomes Discussion Saturday, October 31st Pharmacological and genetic approaches 1 X chromosome reactivation Gene therapy in Rett Syndrome Speakers by abstracts Discussion Pharmacological and genetic approaches 2 CDKL5 therapy Synaptic phenotypes in CDKL5 and MECP2 models insight into signaling alteration Speakers by abstracts Discussion Focus on Clinical Problems Disturbed Autonomic Nervous system Breathing disorders Druginteractions and cardiological prevention Discussion Management of Sleepdisorders? Pain? Update on Nutrition with aging (vit D deficiency, omega 3 fattyacids, supplements, etc.) New advances on Emergency assistance Discussion Cognition and Communication New insight in Cognition and Communication Recent research on communication Discussion Emotion and Behavior treatment optional Rehabilitation Topics in Rehabilitation Trials and therapy Discussion Sunday, November 1st The point on Clinical Trials: from scientific background to results IGF1 results NNZ-2566 trial Copaxone results and statins launch Neuroimmunology and Copaxone in a different trial Desipramin and cardio-respiratory variability Trofinetide on Osteoporosis EPI-743 results Rethinking the future of clinical trials in Rett Syndrome Rett Networked Database: improvement and use for clinical trials Round tables Meeting with experts and conclusive considerations on research Meeting with experts and conclusive considerations on clinics Meeting with experts and conclusive considerations on rehabilitation Closing Remarks **************************************************************************************************************** 2 – Therapists, Educators and Teachers Track - Parallel session Rehabilitation Movement: evaluation and intervention Rehabilitation: advances and new trials Proposal of a new observational grid to observe gross motor modifiabity Conventional physical therapy for scoliosis Hand mannerism and scoliosis Rehabilitation of gait initiation: observation in girls who undertook gait analysis Rett syndrome and music Psychological care and quality of life Attention, memory, language, learning, communication and behavior problems Video-sessions and training on: 1-Techniques for increasing attention and memory 2 -Techniques to increase language 3- Techniques to enhance learning and communication 4 -Techniques for managing behavior problems increasing Speakers Armstrong Judith, Barcelona, Spain Ballas N, New York, USA Ben Zeev Bruria, Tel Aviv, Israel Budden Sarojini, Oregon, USA Chiarini Testa Maria Beatrice, Rome, Italy Cobb Stuart, UK Cusmai Raffaella, Rome, Italy Djukic Alekxandra, New York, USA Elefant Cochavit, Haifa, Israel Fabio Rosa Angela, Messina, Italy Garattini Silvio, Milan, Italy Giannatiempo Samantha, Milan , Italy Giustetto Maurizio, Turin, Italy Glaze Daniel, Houston, USA Green M, USA Greenberg M, Boston, USA Hayek Jose , Siena, Italy Kaufmann Walter, Boston, USA Landsberger Nicoletta, Milan, Italy Leonard Helen, Perth, Australia Lotan Meir, Israel Mancini Josette, Marseille, France Mari Francesca, Siena, Italy Nguyen Gérard, Paris, France Pineda Mercedes, Barcellona, Spain Pugliatti M, Sassari, Italy Rimini Alessandro, Genoa, Italy Rodocanachi Marina, Milan, Italy Rothenbuhler Anya, Marseilles, France Russo Silvia, Milan, Italy Taruscio Domenica, Rome, Italy Veneselli Edvige, Genoa, Italy Vigevano Federico, Rome, Italy Vignoli Aglaia, Milan, Italy Villard Laurent, Marseilles, France
